Canonical Allele Identifier: CA4520265

Gene: MGAM TAS2R38 OR9A4

Linked Data

• ClinVar Variation Id: 2248610
• ClinVar RCV Id: RCV004111057
• dbSNP Id: rs375588043
• ExAC: 7:141673467 C / T
• gnomAD v2: 7-141673467-C-T
• gnomAD v4: 7-141973667-C-T
• COSMIC: COSM1448681
• MyVariant Identifiers: chr7:g.141673467C>T (hg19) ; chr7:g.141973667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141973667C>T , CM000669.2:g.141973667C>T	GRCh38
NC_000007.13:g.141673467C>T , CM000669.1:g.141673467C>T	GRCh37
NC_000007.12:g.141319936C>T	NCBI36
NG_016141.1:g.5107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465654.5:c.-3+27670C>T (MGAM)	ENSP00000419372.1:n.-3+27670C>T
ENST00000547270.1:c.23G>A (TAS2R38) MANE Select	ENSP00000448219.1:p.Arg8His
NM_176817.4:c.23G>A (TAS2R38)	NP_789787.4:p.Arg8His
XM_011515783.1:c.*25-12729C>T (OR9A4)	XP_011514085.1:n.*25-12729C>T
NM_176817.5:c.23G>A (TAS2R38) MANE Select	NP_789787.5:p.Arg8His